Variant report

Variant	rs4435614
Chromosome Location	chr3:151160581-151160582
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr3:151160513-151160829	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:151154108..151155613-chr3:151160574..151163493,2	K562	blood:
2	chr3:151154113..151155918-chr3:151159230..151162074,2	K562	blood:

Variant related genes	Relation type
IGSF10	TF binding region
ENSG00000152580	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13088575	0.84[CEU][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs2172248	0.94[CHB][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4234322	0.94[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs4680440	0.83[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];0.90[GIH][hapmap];0.83[JPT][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4680442	0.84[CEU][hapmap];0.94[CHB][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4680443	0.83[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.88[LWK][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6769246	0.81[EUR][1000 genomes]
rs6798252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7610769	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7619322	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7621591	0.84[CEU][hapmap];0.94[CHB][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9289838	0.84[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9812989	0.94[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9817904	0.94[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs9824609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9825817	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9843590	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9863400	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9871952	0.83[CEU][hapmap];0.93[CHB][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9873499	0.82[EUR][1000 genomes]
rs9877298	0.84[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv877649	chr3:151147968-151236562	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4435614	APLN	trans	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151129400-151162800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:151148400-151161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:151148800-151162400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:151153400-151162600	Weak transcription	Osteobl	bone
5	chr3:151155000-151162800	Weak transcription	NHLF	lung
6	chr3:151156000-151163200	Weak transcription	Fetal Brain Male	brain
7	chr3:151156200-151161400	Weak transcription	Ovary	ovary
8	chr3:151157600-151162600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:151157800-151162800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:151158000-151160800	Weak transcription	Aorta	Aorta
11	chr3:151160000-151161400	Strong transcription	Fetal Lung	lung
12	chr3:151160400-151162800	Weak transcription	Adipose Nuclei	Adipose

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